Format

Send to:

Choose Destination

CCDC12 coiled-coil domain containing 12 [ Homo sapiens (human) ]

Gene ID: 151903, updated on 4-Oct-2020

Summary

Official Symbol
CCDC12provided by HGNC
Official Full Name
coiled-coil domain containing 12provided by HGNC
Primary source
HGNC:HGNC:28332
See related
Ensembl:ENSG00000160799
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in bone marrow (RPKM 3.1), spleen (RPKM 2.9) and 25 other tissues See more
Orthologs

Genomic context

See CCDC12 in Genome Data Viewer
Location:
3p21.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (46916310..46982083, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46963220..47023500, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene myosin light chain 3 Neighboring gene parathyroid hormone 1 receptor Neighboring gene Sharpr-MPRA regulatory region 2536 Neighboring gene neurobeachin like 2 Neighboring gene neurotrophin receptor associated death domain, pseudogene Neighboring gene mitochondrial ribosomal protein L57 pseudogene 3 Neighboring gene SET domain containing 2, histone lysine methyltransferase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39430, FLJ40801, MGC23918

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
U2-type spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-mRNA release spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 12

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001277074.2NP_001264003.1  coiled-coil domain-containing protein 12 isoform 2

    See identical proteins and their annotated locations for NP_001264003.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate internal promoter and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC094020, AC109583
    Consensus CDS
    CCDS2748.3
    UniProtKB/Swiss-Prot
    Q8WUD4
    Conserved Domains (1) summary
    pfam08315
    Location:11143
    cwf18; cwf18 pre-mRNA splicing factor
  2. NM_144716.6NP_653317.2  coiled-coil domain-containing protein 12 isoform 1

    See identical proteins and their annotated locations for NP_653317.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC094020, AC109583
    Consensus CDS
    CCDS63612.1
    UniProtKB/TrEMBL
    J3KR35
    Related
    ENSP00000292314.2, ENST00000292314.6
    Conserved Domains (1) summary
    pfam08315
    Location:24156
    cwf18; cwf18 pre-mRNA splicing factor

RNA

  1. NR_102269.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a supported ORF that is likely to result in a protein product.
    Source sequence(s)
    AC094020, BM676030, BM803652, DA952452

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    46916310..46982083 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533396.2XP_011531698.1  coiled-coil domain-containing protein 12 isoform X5

    See identical proteins and their annotated locations for XP_011531698.1

    Conserved Domains (1) summary
    pfam08315
    Location:44133
    cwf18; cwf18 pre-mRNA splicing factor
  2. XM_024453364.1XP_024309132.1  coiled-coil domain-containing protein 12 isoform X4

    Conserved Domains (1) summary
    pfam08315
    Location:24156
    cwf18; cwf18 pre-mRNA splicing factor
  3. XM_011533390.2XP_011531692.1  coiled-coil domain-containing protein 12 isoform X1

    Conserved Domains (1) summary
    pfam08315
    Location:73122
    cwf18; cwf18 pre-mRNA splicing factor
  4. XM_011533394.3XP_011531696.1  coiled-coil domain-containing protein 12 isoform X3

    Conserved Domains (1) summary
    pfam08315
    Location:4493
    cwf18; cwf18 pre-mRNA splicing factor
  5. XM_011533393.2XP_011531695.1  coiled-coil domain-containing protein 12 isoform X2

    Conserved Domains (1) summary
    pfam08315
    Location:63109
    cwf18; cwf18 pre-mRNA splicing factor

RNA

  1. XR_002959493.1 RNA Sequence

  2. XR_002959494.1 RNA Sequence

Support Center